Mutagenetix > Incidental Mutation

Incidental Mutation 'R1505:Slc25a11'

169127

Institutional Source

Beutler Lab

Gene Symbol

Slc25a11

Ensembl Gene

ENSMUSG00000014606

Gene Name

solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11

Synonyms

2310022P18Rik, 2oxoc

MMRRC Submission

040868-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R1505 (G1)

Quality Score

130

Status

Not validated

Chromosome

Chromosomal Location

70644196-70647479 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70646824 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 13 (D13E)

Ref Sequence

ENSEMBL: ENSMUSP00000014750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014750] [ENSMUST00000037534] [ENSMUST00000055184] [ENSMUST00000136383] [ENSMUST00000139638] [ENSMUST00000141695] [ENSMUST00000152160]

AlphaFold

Q9CR62

Predicted Effect

probably benign
Transcript: ENSMUST00000014750
AA Change: D13E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606
AA Change: D13E

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	18	112	1.3e-22	PFAM
Pfam:Mito_carr	115	213	2.6e-19	PFAM
Pfam:Mito_carr	216	311	5.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000037534

SMART Domains

Protein: ENSMUSP00000036472
Gene: ENSMUSG00000040746

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PA	53	150	1.4e-14	PFAM
transmembrane domain	172	194	N/A	INTRINSIC
RING	230	271	2.65e-9	SMART
low complexity region	278	303	N/A	INTRINSIC
low complexity region	332	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055184

SMART Domains

Protein: ENSMUSP00000057563
Gene: ENSMUSG00000050675

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
LRRNT	19	51	1.66e-1	SMART
LRR	70	91	2.54e2	SMART
LRR	92	114	9.96e-1	SMART
LRR_TYP	115	138	1.56e-2	SMART
LRR_TYP	139	162	1.47e-3	SMART
LRR	163	186	1.89e-1	SMART
LRR	187	210	8.09e-1	SMART
LRRCT	221	281	2.53e-12	SMART
low complexity region	403	432	N/A	INTRINSIC
low complexity region	446	530	N/A	INTRINSIC
low complexity region	533	579	N/A	INTRINSIC
transmembrane domain	612	634	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
PDB:2BP3\|T	680	701	2e-6	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134804

Predicted Effect

probably benign
Transcript: ENSMUST00000136383

SMART Domains

Protein: ENSMUSP00000120900
Gene: ENSMUSG00000014606

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	75	9.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139638

SMART Domains

Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	80	7.4e-17	PFAM
Pfam:Mito_carr	83	181	1.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141537

Predicted Effect

probably benign
Transcript: ENSMUST00000141695

SMART Domains

Protein: ENSMUSP00000121511
Gene: ENSMUSG00000040746

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152276

Predicted Effect

probably benign
Transcript: ENSMUST00000152160

SMART Domains

Protein: ENSMUSP00000115057
Gene: ENSMUSG00000040746

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.5%
20x: 86.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 104,951,565	R444W	probably damaging	Het
Adnp	A	G	2: 168,183,741	S545P	possibly damaging	Het
Ankrd17	T	C	5: 90,300,026	R219G	possibly damaging	Het
Ap2m1	C	G	16: 20,542,697	P372A	probably benign	Het
Calml3	T	A	13: 3,804,071	T45S	probably benign	Het
Casp8	A	G	1: 58,828,922	E174G	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Cfap221	A	C	1: 119,953,628	L368R	probably benign	Het
Chd9	A	G	8: 91,006,495		probably null	Het
Cnot1	A	T	8: 95,728,667	I2035N	probably damaging	Het
Cyp2c67	T	C	19: 39,648,964	R23G	probably benign	Het
Dnah10	A	C	5: 124,754,239	H777P	possibly damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam162b	G	A	10: 51,587,202	A123V	probably damaging	Het
Golgb1	T	A	16: 36,919,643	N2781K	possibly damaging	Het
Hs2st1	C	A	3: 144,434,561	R333L	probably benign	Het
Kmt2e	A	G	5: 23,500,535	H1319R	probably null	Het
Necab1	A	T	4: 14,960,047	M300K	probably benign	Het
Ntrk3	T	A	7: 78,460,524	I321F	probably damaging	Het
Olfr228	A	T	2: 86,483,213	H176Q	possibly damaging	Het
Olfr484	A	G	7: 108,124,993	V90A	probably benign	Het
Olfr860	A	T	9: 19,845,788	M277K	probably benign	Het
Olfr965	A	G	9: 39,719,478	N84D	probably damaging	Het
Osbpl6	T	C	2: 76,579,242	S483P	probably damaging	Het
Pcdhb17	A	C	18: 37,486,822	N555T	probably damaging	Het
Pdgfc	G	A	3: 81,209,236	R299H	possibly damaging	Het
Ptpn7	A	T	1: 135,134,564	T83S	probably benign	Het
Rapgef5	T	C	12: 117,688,619	V79A	possibly damaging	Het
Rexo5	T	A	7: 119,799,603	C54*	probably null	Het
Riok3	A	G	18: 12,152,878	K418R	probably benign	Het
Robo4	G	A	9: 37,403,227	G170D	probably damaging	Het
Rpl8	A	G	15: 76,904,410	D33G	possibly damaging	Het
Rspo2	T	C	15: 43,075,843	T184A	probably damaging	Het
Ryr2	A	T	13: 11,554,592	M4942K	possibly damaging	Het
Sel1l	T	C	12: 91,813,962	Y585C	probably damaging	Het
Slc5a6	G	T	5: 31,037,111	H584N	probably benign	Het
Snrpf	A	G	10: 93,583,519	V69A	possibly damaging	Het
Sorbs3	T	A	14: 70,190,802	K475*	probably null	Het
Speg	G	A	1: 75,375,542	V35I	probably benign	Het
Tlk2	T	G	11: 105,260,295	V468G	probably damaging	Het
Trim6	T	A	7: 104,232,564	W341R	probably damaging	Het
Ttll5	T	A	12: 85,879,410	I326N	probably damaging	Het
Vipas39	T	C	12: 87,246,160	Y318C	probably damaging	Het
Vmn1r185	T	A	7: 26,611,478	I201F	probably damaging	Het
Vwce	A	G	19: 10,664,244	H778R	probably benign	Het
Zbtb14	C	G	17: 69,387,764	I152M	probably benign	Het

Other mutations in Slc25a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03087:Slc25a11	APN	11	70645207	missense	probably benign	0.09
IGL03348:Slc25a11	APN	11	70645344	unclassified	probably benign
R0448:Slc25a11	UTSW	11	70645579	missense	probably benign	0.43
R1368:Slc25a11	UTSW	11	70645526	splice site	probably null
R1781:Slc25a11	UTSW	11	70644825	missense	probably benign	0.44
R1970:Slc25a11	UTSW	11	70646173	missense	probably benign	0.25
R2508:Slc25a11	UTSW	11	70645832	missense	possibly damaging	0.95
R4397:Slc25a11	UTSW	11	70644851	missense	probably benign	0.01
R4747:Slc25a11	UTSW	11	70645956	missense	possibly damaging	0.95
R5177:Slc25a11	UTSW	11	70645817	missense	probably damaging	1.00
R5243:Slc25a11	UTSW	11	70646098	missense	probably damaging	1.00
R5296:Slc25a11	UTSW	11	70646185	missense	probably damaging	0.97
R5510:Slc25a11	UTSW	11	70645535	missense	probably damaging	1.00
R5662:Slc25a11	UTSW	11	70645419	nonsense	probably null
R5771:Slc25a11	UTSW	11	70646190	missense	probably damaging	0.97
R7287:Slc25a11	UTSW	11	70645355	missense	probably benign
R7799:Slc25a11	UTSW	11	70645179	missense	probably benign
R7860:Slc25a11	UTSW	11	70645179	missense	probably benign
R8694:Slc25a11	UTSW	11	70644804	missense	probably benign	0.04
Z1177:Slc25a11	UTSW	11	70644845	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GCACCGGCTCAATTTACTGCAAC -3'
(R):5'- AGGGTAGCTTCCTAAATCGGCCAC -3'

Sequencing Primer
(F):5'- GCTCAATTTACTGCAACACACC -3'
(R):5'- ATCGTGCATCTTAGCCCCG -3'

Posted On

2014-04-13